Cartilage-hair hypoplasia

Known as: CHH, Metaphyseal Chondrodysplasia, Recessive Type, Cartilage Hair Hypoplasia 
A rare autosomal recessive inherited disorder caused by mutation in the gene for RNAase RMRP. It is characterized by short-limb dwarfism, presence of… (More)
National Institutes of Health

Papers overview

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2006
2006
Cartilage hair hypoplasia (CHH) or McKusick type metaphyseal chondrodysplasia (MCD) (OMIM # 250250) is due to either the… (More)
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2006
2006
The association of cartilage hair hypoplasia (CHH) with severe combined immunodeficiency (SCID) has been known for more than… (More)
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2003
2003
We examined 12 Japanese patients with metaphyseal chondrodysplasia (MCD) for mutations in the ribonuclease mitochondrial RNA… (More)
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Highly Cited
2001
Highly Cited
2001
The recessively inherited developmental disorder, cartilage-hair hypoplasia (CHH) is highly pleiotropic with manifestations… (More)
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2001
2001
BACKGROUND Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia with severe growth failure and impaired… (More)
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1997
1997
Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder that presents with pleiotropic manifestations including… (More)
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Review
1995
Review
1995
People with cartilage-hair hypoplasia have unusually short limbs and short stature from birth. They typically have malformations… (More)
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1995
1995
Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by short stature and… (More)
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1992
1992
Cartilage-hair hypoplasia is an osteochondrodysplasia with short-limbed short stature. The cartilage-hair hypoplasia gene is… (More)
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1992
1992
Cartilage-hair hypoplasia is an autosomal recessive osteo-chondrodysplasia which results in short stature, sparse hair and… (More)
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